PedAM
Pediatric Disease Annotations & Medicines
| Disease | febrile seizures |
| Symptom | |epilepsy |
| Sentences | 92 |
| PubMedID- 25590135 | They generate a wide spectrum of phenotypes ranging from the relatively mild generalized epilepsy with febrile seizures plus (gefs+) to other severe epileptic encephalopathies, including myoclonic epilepsy in infancy (smei), cryptogenic focal epilepsy (cfe), cryptogenic generalized epilepsy (cge) and a distinctive subgroup termed as severe infantile multifocal epilepsy (simfe). |
| PubMedID- 25206388 | Sodium channel α1 subunit mutations have also been found in generalized epilepsy with febrile seizures plus, infantile spasms and severe epilepsy of infancy5. |
| PubMedID- 20735403 | Similar selectivity was observed for ranolazine block of increased persistent current exhibited by na(v) 1.1 channel mutations representing three distinct clinical syndromes, generalized epilepsy with febrile seizures plus (r1648h, t875m), severe myoclonic epilepsy of infancy (r1648c, f1661s) and familial hemiplegic migraine type 3 (l263v, q1489k). |
| PubMedID- 23507332 | Purpose: to identify the risk factors for subsequent epilepsy in patients with complex febrile seizures from a single-center retrospective cohort. |
| PubMedID- 25914447 | Abbreviations: aeds - antiepileptic drugs, blast - basic local alignment search tool, cbz - carbamazepine, gefs+ - generalized epilepsy with febrile seizures plus, gpcr - g protein coupled receptor, nav - sodium channel with specific voltage conduction, pdb - protein data bank, pht - phenytoin, pir - protein information resources, saves - structural analysis and verification server, vgsc - voltage-gated sodium channels. |
| PubMedID- 23032131 | Scn1a is a gene that codes for the voltage-dependent sodium channel alpha1 subunit and has been implicated in generalized epilepsy with febrile seizures plus and severe myoclonic epilepsy in infancy. |
| PubMedID- 24842605 | Generalised (genetic) epilepsy with febrile seizures plus (gefs+) is a familial epilepsy syndrome with various phenotypes. |
| PubMedID- 25107880 | There were higher twin concordance estimates for monozygotic (mz) than for dizygotic (dz) twins for idiopathic generalized epilepsies (mz = 0.77; dz = 0.35), genetic epilepsy with febrile seizures plus (mz = 0.85; dz = 0.25), and focal epilepsies (mz = 0.40; dz = 0.03). |
| PubMedID- 24067191 | A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (gefs+) in a tunisian consanguineous family. |
| PubMedID- 22787629 | Generalized epilepsy with febrile seizures plus (gefs+) is caused by missense mutations in nav1.1 channels, which have variable functional effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. |
| PubMedID- 24805083 | We recently demonstrated that drosophila knock-in flies carrying the k1270t scn1a mutation known to cause a form of genetic epilepsy with febrile seizures plus (gefs+) exhibit a heat-induced increase in sodium current activity and seizure phenotype. |
| PubMedID- 22425777 | The first described beta1 subunit mutation is the c121w, that is related to generalized epilepsy with febrile seizures plus (gefs+), a childhood genetic epilepsy syndrome. |
| PubMedID- 21053371 | Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of generalized epilepsy with febrile seizures plus (gefs+) whereas all three affected females had partial cryptogenic epilepsy. |
| PubMedID- 24277604 | Generalized epilepsy with febrile seizures plus (gefs+) is an early onset febrile epileptic syndrome with therapeutic responsive (a)febrile seizures continuing later in life. |
| PubMedID- 21876820 | Interestingly, scn1a mutations have also been found to cause generalised epilepsy with febrile seizures (gefs) as well as a variety of disorders with neurocognitive impairment and variable seizure susceptibility . |
| PubMedID- 20540848 | Methods: thirty-three children with idiopathic epilepsy (14 cases with history of febrile seizures and 19 cases without) and six normal controls experienced mri of the skull and brain and single-voxel 'h-mrs examinations of the hippocampi-temporal lobe. |
| PubMedID- 25567098 | In particular, an equivalent mutation (c121w) in β1 causes generalized epilepsy with febrile seizures plus (gefs+). |
| PubMedID- 25735907 | Purpose of the study: to reassess the predictive role of clinical parameters and epileptiform paroxysmal eeg abnormalities for subsequent epilepsy in patients with febrile seizures. |
| PubMedID- 23420672 | For example, in mouse models of familial alzheimer's disease, it has been suggested that nav1.1 sodium channels are reduced at the cell surface of gabaergic basket cells of the dg, leading to disinhibition of granule cells; in some genetic forms of epilepsy (generalized epilepsy with febrile seizures-plus; severe myoclonic epilepsy in infancy), mutations in nav1.1 cause the disease (catterall et al., 2010; scharfman, 2012b; verret et al., 2012). |
| PubMedID- 21629447 | Moreover the coexistence, in smei patients, of a family history of seizure disorders belonging to the generalized epilepsy with febrile seizures plus (gefs+) spectrum, and the high percentage (95%) of de novo scn1a mutations, suggested the concept that smei is the most severe clinical picture of gefs+ phenotypes . |
| PubMedID- 22007171 | Mutation sites responsible for causing genetic epilepsy with febrile seizures plus (gefs + 1), temporal lobe epilepsy (tle), and dravet syndrome are located in the extracellular immunoglobulin loop (meadows et al., 2002; wallace et al., 2002; audenaert et al., 2003; scheffer et al., 2007; patino et al., 2009). |
| PubMedID- 21156207 | Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. |
| PubMedID- 22525008 | Generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei) differ in their clinical severity and prognosis even though mutations of the na(v) 1.1 sodium channel are responsible for both disorders. |
| PubMedID- 22701429 | Generalized epilepsy with febrile seizures plus (gefs+) is a childhood-onset syndrome featuring febrile seizures (fs) and afebrile epileptic convulsions within the same pedigree. |
| PubMedID- 21488258 | Disease: generalized epilepsy with febrile seizures plus. |
| PubMedID- 25917466 | Genetic epilepsy with febrile seizures plus (gefs+) is a complex autosomal dominant disorder usually caused by mutations in scn1a (a voltage-gated sodium channel). |
| PubMedID- 23205932 | Genetic epilepsy with febrile seizures plus (gefs+) phenotypes occurred in 16 relatives. |
| PubMedID- 21248271 | Missense mutations occurred most frequently in the voltage and ion-pore regions where changes in amino acid polarity were greater in the dravet group compared to the genetic epilepsy with febrile seizures plus group (3.6 vs 2.7; p = 0.031). |
| PubMedID- 20722665 | Recent evidence has suggested possible genetic links to the gefs+ (generalized epilepsy with febrile seizures plus) family, and, additionally, some children with structural brain lesions can mimic the doose syndrome phenotype. |
| PubMedID- 21480876 | Purpose: mutations in the scn1a gene, which encodes the alpha1 subunit of voltage-gated sodium channels, cause generalized epilepsy with febrile seizures plus (gefs+) and severe myoclonic epilepsy of infancy (smei). |
| PubMedID- 21704126 | Genetic epilepsy with febrile seizures plus (gefs+) is a familial autosomal dominant condition characterized by genetic heterogeneity. |
| PubMedID- 22471526 | Over 800 mutations have been identified in the voltage-gated sodium channel genes scn1a and scn2a in human epilepsies, including genetic epilepsy with febrile seizures plus (gefs+) and dravet syndrome. |
| PubMedID- 20410126 | Several missense mutations of the na(v)1.1 channel (scn1a), which alter channel properties, have been reported in a familial syndrome of gefs+ (generalized epilepsy with febrile seizures plus). |
| PubMedID- 22457654 | Specifically, mutations in the nav1.1 alpha subunit gene (scn1a) are responsible for “generalized epilepsy with febrile seizures plus” (gefs+; scheffer and berkovic, 1997) and dravet’s syndrome (mantegazza et al., 2010; meisler et al., 2010). |
| PubMedID- 20194124 | Generalized epilepsy with febrile seizures plus (gefs+) is caused by missense mutations in nav1.1 channels, which have variable biophysical effects on sodium channels expressed in non-neuronal cells, but may primarily cause loss of function when expressed in mice. |
| PubMedID- 21396429 | We report on two patients with scn1a mutations and severe epilepsy within the spectrum of generalized epilepsy with febrile seizures plus syndrome (gefs+), the phenotypes being consistent with ds and mae, respectively. |
| PubMedID- 24586108 | Epileptiform discharges and frontal paroxysmal eeg abnormality act as predictive marker for subsequent epilepsy in children with complex febrile seizures. |
| PubMedID- 23895530 | Mutations of the scn1a subunit of the sodium channel is a cause of genetic epilepsy with febrile seizures plus (gefs(+) ) in multiplex families and accounts for 70-80% of dravet syndrome (ds). |
| PubMedID- 21864321 | Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or dravet syndrome. |
| PubMedID- 21719429 | D = (scn1a protein) domain; genetic epilepsy with febrile seizures plus = genetic epilepsy with febrile seizures plus; s = (scn1a protein) segment. |
| PubMedID- 20923578 | Well known examples are genetic generalized epilepsy with febrile seizures plus , caused by mutations in sodium channel genes, and recently, genetic generalized epilepsy caused by the 15q13.3 cnv . |
| PubMedID- 25281316 | This mild impairment of excitability of interneurons leads to a milder disease phenotype in 129/svj mice, similar to genetic epilepsy with febrile seizures plus in humans. |
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